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Senior-Loken syndrome 5(SLSN5)

MedGen UID:
332226
Concept ID:
C1836517
Disease or Syndrome
Synonym: SLSN5
 
Gene (location): IQCB1 (3q13.33)
 
Monarch Initiative: MONDO:0012225
OMIM®: 609254

Definition

Senior-Loken syndrome is an autosomal recessive disorder with the main features of nephronophthisis (NPHP; see 256100) and Leber congenital amaurosis (LCA; see 204000). For a general phenotypic description and a discussion of genetic heterogeneity of Senior-Loken syndrome, see 266900. [from OMIM]

Additional description

From MedlinePlus Genetics
Senior-Løken syndrome is a rare disorder characterized by the combination of two specific features: a kidney condition called nephronophthisis and an eye condition known as Leber congenital amaurosis.

Nephronophthisis causes fluid-filled cysts to develop in the kidneys beginning in childhood. These cysts impair kidney function, initially causing increased urine production (polyuria), excessive thirst (polydipsia), general weakness, and extreme tiredness (fatigue). Nephronophthisis leads to end-stage renal disease (ESRD) later in childhood or in adolescence. ESRD is a life-threatening failure of kidney function that occurs when the kidneys are no longer able to filter fluids and waste products from the body effectively.

Leber congenital amaurosis primarily affects the retina, which is the specialized tissue at the back of the eye that detects light and color. This condition causes vision problems, including an increased sensitivity to light (photophobia), involuntary movements of the eyes (nystagmus), and extreme farsightedness (hyperopia). Some people with Senior-Løken syndrome develop the signs of Leber congenital amaurosis within the first few years of life, while others do not develop vision problems until later in childhood.  https://medlineplus.gov/genetics/condition/senior-loken-syndrome

Clinical features

From HPO
Nephronophthisis
MedGen UID:
146912
Concept ID:
C0687120
Disease or Syndrome
The nephronophthisis (NPH) phenotype is characterized by reduced renal concentrating ability, chronic tubulointerstitial nephritis, cystic renal disease, and progression to end-stage renal disease (ESRD) before age 30 years. Three age-based clinical subtypes are recognized: infantile, juvenile, and adolescent/adult. Infantile NPH can present in utero with oligohydramnios sequence (limb contractures, pulmonary hypoplasia, and facial dysmorphisms) or postnatally with renal manifestations that progress to ESRD before age 3 years. Juvenile NPH, the most prevalent subtype, typically presents with polydipsia and polyuria, growth retardation, chronic iron-resistant anemia, or other findings related to chronic kidney disease (CKD). Hypertension is typically absent due to salt wasting. ESRD develops at a median age of 13 years. Ultrasound findings are increased echogenicity, reduced corticomedullary differentiation, and renal cysts (in 50% of affected individuals). Histologic findings include tubulointerstitial fibrosis, thickened and disrupted tubular basement membrane, sporadic corticomedullary cysts, and normal or reduced kidney size. Adolescent/adult NPH is clinically similar to juvenile NPH, but ESRD develops at a median age of 19 years. Within a subtype, inter- and intrafamilial variability in rate of progression to ESRD is considerable. Approximately 80%-90% of individuals with the NPH phenotype have no extrarenal features (i.e., they have isolated NPH); ~10%-20% have extrarenal manifestations that constitute a recognizable syndrome (e.g., Joubert syndrome, Bardet-Biedl syndrome, Jeune syndrome and related skeletal disorders, Meckel-Gruber syndrome, Senior-Løken syndrome, Leber congenital amaurosis, COACH syndrome, and oculomotor apraxia, Cogan type).
Stage 5 chronic kidney disease
MedGen UID:
384526
Concept ID:
C2316810
Disease or Syndrome
A degree of kidney failure severe enough to require dialysis or kidney transplantation for survival characterized by a severe reduction in glomerular filtration rate (less than 15 ml/min/1.73 m2) and other manifestations including increased serum creatinine.
Rod-cone dystrophy
MedGen UID:
1632921
Concept ID:
C4551714
Disease or Syndrome
An inherited retinal disease subtype in which the rod photoreceptors appear to be more severely affected than the cone photoreceptors. Typical presentation is with nyctalopia (due to rod dysfunction) followed by loss of mid-peripheral field of vision, which gradually extends and leaves many patients with a small central island of vision due to the preservation of macular cones.

Recent clinical studies

Etiology

Wang J, Li S, Jiang Y, Wang Y, Ouyang J, Yi Z, Sun W, Jia X, Xiao X, Wang P, Zhang Q
Am J Ophthalmol 2023 Aug;252:188-204. Epub 2023 Mar 27 doi: 10.1016/j.ajo.2023.03.025. PMID: 36990420
Brancati F, Dallapiccola B, Valente EM
Orphanet J Rare Dis 2010 Jul 8;5:20. doi: 10.1186/1750-1172-5-20. PMID: 20615230Free PMC Article
Otto E, Hoefele J, Ruf R, Mueller AM, Hiller KS, Wolf MT, Schuermann MJ, Becker A, Birkenhäger R, Sudbrak R, Hennies HC, Nürnberg P, Hildebrandt F
Am J Hum Genet 2002 Nov;71(5):1161-7. Epub 2002 Aug 29 doi: 10.1086/344395. PMID: 12205563Free PMC Article
Satran D, Pierpont ME, Dobyns WB
Am J Med Genet 1999 Oct 29;86(5):459-69. PMID: 10508989
Konrad M, Saunier S, Calado J, Gubler MC, Broyer M, Antignac C
J Mol Med (Berl) 1998 Apr;76(5):310-6. doi: 10.1007/s001090050222. PMID: 9587065

Diagnosis

Wang J, Li S, Jiang Y, Wang Y, Ouyang J, Yi Z, Sun W, Jia X, Xiao X, Wang P, Zhang Q
Am J Ophthalmol 2023 Aug;252:188-204. Epub 2023 Mar 27 doi: 10.1016/j.ajo.2023.03.025. PMID: 36990420
Brancati F, Dallapiccola B, Valente EM
Orphanet J Rare Dis 2010 Jul 8;5:20. doi: 10.1186/1750-1172-5-20. PMID: 20615230Free PMC Article
Konrad M, Saunier S, Calado J, Gubler MC, Broyer M, Antignac C
J Mol Med (Berl) 1998 Apr;76(5):310-6. doi: 10.1007/s001090050222. PMID: 9587065
Hildebrandt F, Waldherr R, Kutt R, Brandis M
Clin Investig 1992 Sep;70(9):802-8. doi: 10.1007/BF00180751. PMID: 1450635
Fillastre JP, Guenel J, Riberi P, Marx P, Whitworth JA, Kunh JM
Clin Nephrol 1976 Jan;5(1):14-9. PMID: 1248184

Prognosis

Wen S, Min X, Zhu Y, Zhou X
BMC Pediatr 2022 May 24;22(1):305. doi: 10.1186/s12887-021-02992-7. PMID: 35610621Free PMC Article
Tong H, Yue Z, Sun L, Chen H, Wang W, Wang H
Nephrology (Carlton) 2013 Dec;18(12):838-42. doi: 10.1111/nep.12156. PMID: 24674142
Brancati F, Dallapiccola B, Valente EM
Orphanet J Rare Dis 2010 Jul 8;5:20. doi: 10.1186/1750-1172-5-20. PMID: 20615230Free PMC Article
Gusmano R, Ghiggeri GM, Caridi G
J Nephrol 1998 Sep-Oct;11(5):224-8. PMID: 9831234
Hildebrandt F, Waldherr R, Kutt R, Brandis M
Clin Investig 1992 Sep;70(9):802-8. doi: 10.1007/BF00180751. PMID: 1450635

Clinical prediction guides

Wang J, Li S, Jiang Y, Wang Y, Ouyang J, Yi Z, Sun W, Jia X, Xiao X, Wang P, Zhang Q
Am J Ophthalmol 2023 Aug;252:188-204. Epub 2023 Mar 27 doi: 10.1016/j.ajo.2023.03.025. PMID: 36990420
Wen S, Min X, Zhu Y, Zhou X
BMC Pediatr 2022 May 24;22(1):305. doi: 10.1186/s12887-021-02992-7. PMID: 35610621Free PMC Article
Tong H, Yue Z, Sun L, Chen H, Wang W, Wang H
Nephrology (Carlton) 2013 Dec;18(12):838-42. doi: 10.1111/nep.12156. PMID: 24674142
Salomon R, Saunier S, Niaudet P
Pediatr Nephrol 2009 Dec;24(12):2333-44. Epub 2008 Jul 8 doi: 10.1007/s00467-008-0840-z. PMID: 18607645Free PMC Article
Schuermann MJ, Otto E, Becker A, Saar K, Rüschendorf F, Polak BC, Ala-Mello S, Hoefele J, Wiedensohler A, Haller M, Omran H, Nürnberg P, Hildebrandt F
Am J Hum Genet 2002 May;70(5):1240-6. Epub 2002 Mar 27 doi: 10.1086/340317. PMID: 11920287Free PMC Article

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